The molecular basis of Tay-Sachs disease: Mutation identification and diagnosis
β Scribed by Don J. Mahuran; Barbara L. Triggs-Raine; Annette J. Feigenbaum; Roy A. Gravel
- Book ID
- 107740445
- Publisher
- Elsevier Science
- Year
- 1990
- Tongue
- English
- Weight
- 777 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0009-9120
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π SIMILAR VOLUMES
Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely ce
Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. The disorder results from mutations in the gene encoding the ~-subunit of Γ-hexosaminidase A, a lysosomal enzyme composed of ~ and Γ polypeptides. Seventy-eight mutations in the Hex A gene have been described